BETA-GLOBIN GENE INACTIVATION BY DNA TRANSLOCATION IN GAMMA-BETA-THALASSAEMIA
BETA-GLOBIN GENE INACTIVATION BY DNA TRANSLOCATION IN GAMMA-BETA-THALASSAEMIA
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DOI：
10.1038/306662a0
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发表时间：
1983-01-01
期刊：
影响因子：
64.8
通讯作者：
GROSVELD, FG
中科院分区：
文献类型：
--
作者：
KIOUSSIS, D;VANIN, E;GROSVELD, FG
β-存在于荷兰人γ中缺失基因座上的珠蛋白基因。贝塔地中海贫血患者与正常β-地中海贫血患者相同，[人宫颈癌] HeLa细胞中珠蛋白基因的DNA序列及其转录。DNA酶I敏感性和甲基化实验表明，受影响的β-珠蛋白基因在体内以无活性构型存在。这是正常无活性基因座易位到β-受影响的染色体上的珠蛋白基因，或通常维持活性状态所需的序列的缺失。
The .beta.-globin gene present on the deletion locus in a Dutch .gamma..beta.-thalassemic patient was identical to the normal .beta.-globin gene with respect to DNA sequence and its transcription in [human cervical carcinoma] HeLa cells. DNase I sensitivity and methylation experiments show that the affected .beta.-globin gene is present in an inactive configuration in vivo. This is the result of a translocation of a normally inactive locus next to the .beta.-globin gene on the affected chromosome, or the deletion of sequences which are normally required for the maintenance of the active state.